A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18172147



Internal ID20739187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:78554654..78555371hg38UCSC Ensembl
chr8:79466889..79467606hg19UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6435080
Supporting Variants
Samples
Known GenesPKIA
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18172147
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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